Q22K (p.Gln22Lys) variant of NKX2-5 (Homeobox protein Nkx-2.5)
Q22K (p.Gln22Lys) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Atrial septal defect 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
Q22K (p.Gln22Lys) variant details
- p.Gln22Lys
- rs764389026
- ClinGen CA362163759
- ClinVar RCV002248048
- ExAC rs764389026
- Likely pathogenic
- Atrial septal defect 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- REVEL 0.66
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.04
- ClinVar: Likely pathogenic (Atrial septal defect 7)
- EBI: Variant of uncertain significance (in ASD7 and TOF)
- UniProt: Uncertain significance (in ASD7 and TOF)
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available